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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GH-LCR, GH1
Single nucleotide variant
(intron variant +1 more)
Autosomal dominant isolated somatotropin deficiency
GPathogenic
GH-LCR, SCN4A
(L1587F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GH-LCR, SCN4A
(G1456W)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 2
GLikely pathogenic
GH-LCR, SCN4A
(G1306V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
GH-LCR, SCN4A
(T704M)
Single nucleotide variant
(missense variant)
not provided
+8 more
GPathogenic
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